Canonical Allele Identifier: CA315578459

Gene: PIGT

Linked Data

• dbSNP Id: rs933802403
• gnomAD v4: 20-45424242-G-C
• MyVariant Identifiers: chr20:g.44052882G>C (hg19) ; chr20:g.45424242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424242G>C , CM000682.2:g.45424242G>C	GRCh38
NC_000020.10:g.44052882G>C , CM000682.1:g.44052882G>C	GRCh37
NC_000020.9:g.43486296G>C	NCBI36
NG_047154.1:g.13176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424705.3:c.1261G>C	ENSP00000491856.2:p.Asp421His
ENST00000638691.2:c.1261G>C	ENSP00000492094.2:p.Asp421His
ENST00000639292.2:c.1342G>C	ENSP00000491678.2:p.Asp448His
ENST00000640549.2:c.1261G>C	ENSP00000492043.2:p.Asp421His
ENST00000687237.1:n.651G>C
ENST00000689203.1:c.1261G>C	ENSP00000508682.1:p.Asp421His
ENST00000690879.1:n.737G>C
ENST00000692236.1:c.1261G>C	ENSP00000509421.1:p.Asp421His
ENST00000279035.14:c.955G>C	ENSP00000279035.8:p.Asp319His
ENST00000279036.12:c.1261G>C MANE Select	ENSP00000279036.6:p.Asp421His
ENST00000432270.2:c.754G>C	ENSP00000408354.2:p.Asp252His
ENST00000543458.7:c.1093G>C	ENSP00000441577.1:p.Asp365His
ENST00000545755.3:c.679G>C	ENSP00000443963.3:p.Asp227His
ENST00000638241.1:n.1139G>C
ENST00000638246.1:c.*761G>C	ENSP00000492883.1:n.*761G>C
ENST00000638277.1:c.195G>C
ENST00000638383.1:c.*610G>C	ENSP00000492295.1:n.*610G>C
ENST00000638387.1:c.*305G>C	ENSP00000492873.1:n.*305G>C
ENST00000638415.1:c.798G>C
ENST00000638445.1:c.*645G>C	ENSP00000491297.1:n.*645G>C
ENST00000638537.1:n.1050G>C
ENST00000638594.1:c.1261G>C	ENSP00000491697.1:p.Asp421His
ENST00000638612.1:c.1261G>C	ENSP00000491458.1:p.Asp421His
ENST00000638671.1:c.*645G>C	ENSP00000492875.1:n.*645G>C
ENST00000638689.1:n.3468G>C
ENST00000638691.1:c.18G>C
ENST00000638710.1:c.1467G>C	ENSP00000491406.1:n.1467G>C
ENST00000638714.1:c.*645G>C	ENSP00000491194.1:n.*645G>C
ENST00000638745.1:c.*645G>C	ENSP00000491744.1:n.*645G>C
ENST00000638927.1:c.403G>C	ENSP00000492335.1:p.Asp135His
ENST00000638938.1:c.*717G>C	ENSP00000491171.1:n.*717G>C
ENST00000638962.1:n.1221G>C
ENST00000638978.1:c.1211G>C	ENSP00000492743.1:p.Gly404Ala
ENST00000639250.1:n.2511G>C
ENST00000639292.1:c.1121G>C
ENST00000639382.1:c.1120G>C	ENSP00000491534.1:p.Asp374His
ENST00000639417.1:c.*305G>C	ENSP00000491058.1:n.*305G>C
ENST00000639499.1:c.1261G>C	ENSP00000491170.1:p.Asp421His
ENST00000639664.1:n.988G>C
ENST00000639783.1:c.*563G>C	ENSP00000491772.1:n.*563G>C
ENST00000639872.1:n.830G>C
ENST00000639932.1:c.*563G>C	ENSP00000491600.1:n.*563G>C
ENST00000639984.1:c.*563G>C	ENSP00000492727.1:n.*563G>C
ENST00000640107.1:c.*521G>C	ENSP00000491118.1:n.*521G>C
ENST00000640108.1:c.*950G>C	ENSP00000492007.1:n.*950G>C
ENST00000640175.1:c.*563G>C	ENSP00000492418.1:n.*563G>C
ENST00000640194.1:c.*580G>C	ENSP00000492279.1:n.*580G>C
ENST00000640210.1:c.850G>C	ENSP00000491164.1:p.Asp284His
ENST00000640253.1:n.475G>C
ENST00000640272.1:c.*645G>C	ENSP00000492270.1:n.*645G>C
ENST00000640324.1:c.1267G>C	ENSP00000491074.1:p.Asp423His
ENST00000640364.1:n.1984G>C
ENST00000640542.1:c.1060G>C	ENSP00000492174.1:p.Asp354His
ENST00000640549.1:c.751G>C	ENSP00000492043.1:p.Asp251His
ENST00000640585.1:c.*918G>C	ENSP00000491308.1:n.*918G>C
ENST00000640638.1:n.429G>C
ENST00000640666.1:c.1261G>C	ENSP00000491072.1:p.Asp421His
ENST00000640692.1:c.*177G>C	ENSP00000492370.1:n.*177G>C
ENST00000640940.1:n.923G>C
ENST00000640986.1:c.*378G>C	ENSP00000491886.1:n.*378G>C
ENST00000640996.1:c.*938G>C	ENSP00000492464.1:n.*938G>C
ENST00000279035.13:c.955G>C	ENSP00000279035.8:p.Asp319His
ENST00000279036.10:c.1261G>C	ENSP00000279036.6:p.Asp421His
ENST00000372689.9:c.1060G>C	ENSP00000361774.4:p.Asp354His
ENST00000455050.2:c.*792G>C	ENSP00000407574.2:n.*792G>C
ENST00000543458.6:c.1093G>C	ENSP00000441577.1:p.Asp365His
ENST00000545755.2:c.290G>C
NM_001184728.2:c.1093G>C	NP_001171657.1:p.Asp365His
NM_001184729.2:c.1060G>C	NP_001171658.1:p.Asp354His
NM_001184730.2:c.955G>C	NP_001171659.1:p.Asp319His
NM_015937.5:c.1261G>C	NP_057021.2:p.Asp421His
NR_047691.1:n.1311G>C
NR_047692.1:n.1254G>C
NR_047693.1:n.1250G>C
NR_047694.1:n.1173G>C
NR_047695.1:n.944G>C
XM_005260430.2:c.754G>C	XP_005260487.1:p.Asp252His
XM_005260432.1:c.475G>C	XP_005260489.1:p.Asp159His
XM_005260432.3:c.475G>C	XP_005260489.1:p.Asp159His
XR_001754286.2:n.1297G>C
XR_001754287.2:n.1096G>C
NM_015937.6:c.1261G>C MANE Select	NP_057021.2:p.Asp421His
NM_001184728.3:c.1093G>C	NP_001171657.1:p.Asp365His
NM_001184729.3:c.1060G>C	NP_001171658.1:p.Asp354His
NM_001184730.3:c.955G>C	NP_001171659.1:p.Asp319His
NR_047691.2:n.1237G>C
NR_047692.2:n.1180G>C
NR_047693.2:n.1176G>C
NR_047694.2:n.1099G>C
NR_047695.2:n.870G>C